ClinVar

NM_004628.5(XPC):c.2437G>A (p.Val813Ile)

Gene:

XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 14147985 (on Assembly GRCh38)
• Chr3: 14189485 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2437G>A (p.Val813Ile)

Other names:

p.Val813Ile

HGVS:

• NC_000003.12:g.14147985C>T
• NG_011763.1:g.35688G>A
• NM_001354726.2:c.1858G>A
• NM_001354727.2:c.2431G>A
• NM_001354729.2:c.2419G>A
• NM_001354730.2:c.2191G>A
• NM_004628.5:c.2437G>AMANE SELECT
• NP_001341655.1:p.Val620Ile
• NP_001341656.1:p.Val811Ile
• NP_001341658.1:p.Val807Ile
• NP_001341659.1:p.Val731Ile
• NP_004619.3:p.Val813Ile
• LRG_472t1:c.2437G>A
• LRG_472:g.35688G>A
• NC_000003.11:g.14189485C>T
• NM_004628.4:c.2437G>A
• NR_148950.2:n.2309G>A
• NR_148951.2:n.2185G>A

This HGVS expression did not pass validation

Protein change:

V620I

Links:

dbSNP: rs371576722

NCBI 1000 Genomes Browser:

rs371576722

Molecular consequence:

• NM_001354726.2:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354727.2:c.2431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354729.2:c.2419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354730.2:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004628.5:c.2437G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148950.2:n.2309G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2185G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1